Variant report

Variant	rs2293694
Chromosome Location	chr19:35990411-35990412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35988445..35991063-chr19:35995324..35997117,2	MCF-7	breast:
2	chr19:35985467..35988273-chr19:35990400..35992597,2	K562	blood:
3	chr19:35988209..35991439-chr19:35991792..35995590,3	MCF-7	breast:
4	chr19:35979822..35982375-chr19:35989666..35992249,2	MCF-7	breast:
5	chr19:35989496..35991210-chr19:35992693..35995113,2	K562	blood:

Variant related genes	Relation type
ENSG00000188508	Chromatin interaction
ENSG00000161249	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11666154	0.93[ASN][1000 genomes]
rs11671004	0.82[MEX][hapmap]
rs2008189	0.81[ASN][1000 genomes]
rs2293693	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2293695	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2293698	0.93[ASN][1000 genomes]
rs2293700	0.91[CHD][hapmap];0.82[MEX][hapmap]
rs8100640	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv978907	chr19:35987077-35993083	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2293694	POU2F2	cis	cerebellum	SCAN
rs2293694	CYP2B7P1	cis	cerebellum	SCAN
rs2293694	LGALS17A	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35986400-35992400	Weak transcription	Brain Anterior Caudate	brain
2	chr19:35986400-35994000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:35986400-35999600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:35986400-36000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:35986400-36000600	Weak transcription	Right Atrium	heart
6	chr19:35986600-35992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:35986600-35993800	Weak transcription	Spleen	Spleen
8	chr19:35986800-35991200	Weak transcription	Esophagus	oesophagus
9	chr19:35986800-35991600	Weak transcription	Fetal Lung	lung
10	chr19:35986800-35992000	Weak transcription	GM12878-XiMat	blood
11	chr19:35986800-35992600	Weak transcription	Brain Angular Gyrus	brain
12	chr19:35986800-35995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:35986800-35996400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:35986800-36000200	Weak transcription	Gastric	stomach
15	chr19:35986800-36000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr19:35987000-35990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:35987000-35992200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:35987800-35992200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:35987800-35998200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:35988000-35992600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:35988000-35992800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:35988000-35998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:35988000-35999000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:35988000-35999200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:35988200-35996600	Strong transcription	Fetal Intestine Small	intestine
26	chr19:35988200-35997800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:35988200-35998400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:35988200-35999000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr19:35988600-35995200	Strong transcription	Fetal Stomach	stomach
30	chr19:35988800-35998600	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr19:35989000-35993200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:35989400-35992600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:35989400-35992800	Strong transcription	NHEK	skin
34	chr19:35989400-35997600	Strong transcription	Pancreas	Pancrea
35	chr19:35989400-35998800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:35989600-35991000	Strong transcription	Ovary	ovary
37	chr19:35989600-35999200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr19:35989800-35992200	Strong transcription	Aorta	Aorta
39	chr19:35989800-35992600	Strong transcription	HMEC	breast
40	chr19:35990200-35991200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:35990200-35997000	Weak transcription	Fetal Intestine Large	intestine
42	chr19:35990200-36000400	Weak transcription	Lung	lung
43	chr19:35990400-35992400	Strong transcription	HepG2	liver

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